Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 Biomarker group BEFREE PRKAG2 cardiac syndrome is a distinct form of human cardiomyopathy characterized by cardiac hypertrophy, ventricular pre-excitation and progressive cardiac conduction disorder. 29452156 2018
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 GeneticVariation group BEFREE We also present a clinical perspective on the major components of the cardiomyopathy associated with mutations in PRKAG2, together with less commonly described extracardiac features, its prognosis, and principles of management. 29480501 2018
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 Biomarker group BEFREE There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. 28546535 2017
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 GeneticVariation group BEFREE In the present study, the entire coding sequences and flanking regions of 12 major disease (cardiomyopathy)-related genes [namely myosin, heavy chain 7, cardiac muscle, β (MYH7); myosin binding protein C, cardiac (MYBPC3); lamin A/C (LMNA); troponin I type 3 (cardiac) (TNNI3); troponin T type 2 (cardiac) (TNNT2); actin, α, cardiac muscle 1 (ACTC1); tropomyosin 1 (α) (TPM1); sodium channel, voltage gated, type V alpha subunit (SCN5A); myosin, light chain 2, regulatory, cardiac, slow (MYL2); myosin, heavy chain 6, cardiac muscle, α (MYH6); myosin, light chain 3, alkali, ventricular, skeletal, slow (MYL3); and protein kinase, AMP-activated, gamma 2 non-catalytic subunit  (PRKAG2)] in 8 patients with dilated cardiomyopathy (DCM) and in 8 patients with hypertrophic cardiomyopathy (HCM) were amplified and then sequenced using the Ion Torrent Personal Genome Machine (PGM) system. 27082122 2016
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 Biomarker group BEFREE As in patients with PRKAG2 cardiomyopathy, iPS cell and mouse models are protected from cardiac fibrosis, and we define a crosstalk between AMPK and post-transcriptional regulation of TGFβ isoform signaling that has implications in fibrotic forms of cardiomyopathy. 28009297 2016
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 Biomarker group BEFREE CMR is a valuable tool in detecting diffuse and focal myocardial abnormalities in PRKAG2 cardiomyopathy. 26496977 2015
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 GeneticVariation group CLINVAR Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish. 23992123 2014
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 GeneticVariation group BEFREE Extensive fibrofatty replacement of the myocardium has been previously thought to be pathognomonic of ARVC; however, this report details two other forms of inherited cardiomyopathy, namely hypertrophic cardiomyopathy (HCM) and the PRKAG2 cardiac syndrome, that were found to have significant fibrofatty myocardial replacement at pathologic examination. 19632136 2011
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 GeneticVariation group BEFREE Although increased glucose uptake and activation of glycogen synthesis have been documented in PRKAG2 cardiomyopathy, the mechanism of increased glucose uptake has been uncertain. 20600102 2010
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 Biomarker group LHGDN Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations. 18158359 2008
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 GeneticVariation group LHGDN Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 15673802 2005
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 Biomarker group BEFREE Two alpha-subunit isoforms, alpha1 and alpha2, are expressed in the heart; however, the contribution of AMPK utilization of these subunits to PRKAG2 cardiomyopathy is unknown. 16275868 2005
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 GeneticVariation group CLINVAR Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 15673802 2005
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 GeneticVariation group BEFREE Mutations in PRKAG2 appear to specifically cause HCM with WPW and conduction disease, and not other inherited cardiomyopathies. 14519435 2003
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 AlteredExpression group BEFREE Mutations in the gamma2 subunit (PRKAG2) of AMP-activated protein kinase produce an unusual human cardiomyopathy characterized by ventricular hypertrophy and electrophysiological abnormalities: Wolff-Parkinson-White syndrome (WPW) and progressive degenerative conduction system disease. 12782567 2003
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 Biomarker group HPO
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 CausalMutation group CLINVAR
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.500 Biomarker group GENOMICS_ENGLAND